(Q78138694)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10450796%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

title

Molecular characterization of McArdle's disease in two large Finnish families (English)

1 reference

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11 December 2019

author

Georgios M Hadjigeorgiou

5

object named as

G M Hadjigeorgiou

1 reference

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11 December 2019

author name string

C Bruno

1

1 reference

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11 December 2019

M Löfberg

2

1 reference

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11 December 2019

L Tamburino

3

1 reference

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11 December 2019

H Jänkälä

4

1 reference

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11 December 2019

A L Andreu

6

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11 December 2019

S Shanske

7

1 reference

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11 December 2019

H Somer

8

1 reference

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11 December 2019

S DiMauro

9

1 reference

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11 December 2019

publication date

1 June 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10450796%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

11 December 2019

published in

1 reference

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11 December 2019

volume

165

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11 December 2019

issue

2

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11 December 2019

page(s)

121-125

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Glycogen storage diseases of muscle

11 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900091-X

Diagnosis of McArdle's disease by molecular genetic analysis of blood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900091-X

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900091-X

Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900091-X

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900091-X

Molecular genetic analysis of McArdle's disease in Spanish patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900091-X

Mutation analysis in myophosphorylase deficiency (McArdle's disease)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900091-X

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900091-X

A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900091-X

Metabolic causes of recurrent rhabdomyolysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900091-X

A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900091-X

Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900091-X

10.1016/S0022-510X(99)00091-X

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10450796%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

1 reference